• Title/Summary/Keyword: 염색체 이상

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Effect of Maternal Age on Chromosome Aberrations and Telomere Quantity in Chick Embryos (닭의 모체 연령에 따른 생산 배아의 염색체 이상 빈도 및 텔로미어 함량 분석)

  • Lee, Soo-Hee;Subramani, Vinod K.;Sohn, Sea-Hwan
    • Korean Journal of Poultry Science
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    • v.36 no.4
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    • pp.293-300
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    • 2009
  • The rate of fetus with abnormal chromosomes increase with maternal age. Nondisjunction of aging oocyte chromosome is a major reason for the increased rate of abnormalities. Telomeres are the ends of eukaryotic chromosome, which are essential for chromosome stability and are related in cell senescence. This study was carried out to analyze the chromosome aberration rate and amount of telomeric DNA in chick embryo along with maternal age. Fertilized eggs and blood were sampled from White Leghorn layers starting at 20 weeks through to 70 weeks age at 10 weeks interval. Chromosome aberration rate was analyzed by karyotyping. The amounts of telomeric DNA in embryonic cells and lymphocytes were quantified by Quantitative Fluorescence in situ Hybridization method. The chromosome aberration rate in chick embryos significantly differed with maternal age. The chromosome aberration rate increased at early laying period and beyond 70 weeks of maternal age. Therefore, chromosome aberration rate was affected by maternal age due to ovulated oocytes state. However, the amount of telomeric DNA on embryonic cells did not differ significantly with maternal age. Thus, maternal age does not affects telomere quantity in their embryos due to cellular reprograming at early embryonic stage after fertilization.

초기 배아의 분리할구에서 중기 염색체상 획득 방법에 대한 연구: 염색체 변이로 인한 착상전 유전자 진단에서 보인자와 정상 핵형 구분을 위한 연구

  • 임천규;전진현;민동미;변혜경;김진영;궁미경;강인수
    • Proceedings of the Korean Society of Embryo Transfer Conference
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    • 2002.11a
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    • pp.105-105
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    • 2002
  • 염색체의 구조적 이상으로 인한 습관성 유산과 기형아의 출산을 예방하기 위해 착상전 배아에서 할구를 분석하여 정상적인 핵형을 가진 배아만을 이식하는 착상전 유전자 진단 (preimplantation genetic diagnosis, PGD)의 성공적인 임상 적용이 보고되고 있으며, 그 적용 범위가 확대되고 있다. 그러나 일반적인 간기의 핵상을 이용한 PGD에서는 형광직접보합법 probe의 제약으로 보인자와 정상적인 핵형을 구분할 수 없는 단점이 있다. 따라서 본 연구에서는 보다 정확한 PGD를 위해 생쥐 배아를 이용하여 분리한 할구에서 중기 염색체상을 획득하기 위해 미세소관 (microtubule) 형성 저해제를 처리하였으며, 이를 통해 확립된 방법을 인간의 PGD에 적용하고자 하였다. 과배란이 유도된 ICR 생쥐에서 4- 또는 8-세포기 배아를 수획하여 colcemid, nocodazole, vinblastine을 각각 0.1, 0.5, 1.0, 5.0$\mu$M을 처리하고, hoechst 33342로 염색하여 핵상을 관찰하여 최적의 농도를 결정하였다. 또한 각 미세소관 형성 저해제를 혼합 처리하여 가장 높은 중기 염색체상을 획득할 수 있는 혼합 처리를 결정하였다. 이렇게 결정된 혼합 처리 방법을 인간의 체외 수정 및 배아 이식술에서 획득된 3PN 배아에 처리하여 중기 염색체를 획득하였다. Colcemid, nocodazole, vinblastine 모두 1 $\mu$M이 최적 농도임을 확인할 수 있었다 (각각 96.3%, 92.0%, 98,4%). 미세소관 형성저해제를 혼합 처리하였을 경우 nocodazole과 vinblastine (각각 1$\mu$M)을 혼합 처리했을 때 중기 염색체 획득률(97.3%)이 가장 높았다. 인간의 3PN 배아에 1$\mu$M의 nocodazole과 vinblastine을 혼합 처리한 후, 113개의 할구를 분석하여 44개(38.9%)의 할구에서 중기 염색체를 확인할 수 있었다. 본 실험 결과를 통해 중기 염색체를 획득하기 위하여 미세소관 형성 저해제를 처리하는 방법은 생쥐의 배아에서는 효과적이지만, 인간의 배아에서는 그 효율이 다소 낮음을 알 수 있었다. 그러나 이 방법을 개선하여 인간의 할구에서 중기 염색체의 획득률을 높이고, 이를 염색체의 구조적 이상에 대한 착상전 유전자 진단에 적용한다면, 보인자와 정상의 핵상을 구분하여 정상의 핵상만을 갖는 배아의 이식을 통하여 더욱 정확한 착상전 유전자 진단을 시행할 수 있으리라 사료된다.

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Chromosome and Spindle Configuration of Mouse Oocytes after Vitrification at the Mature Stage (마우스 성숙난자의 유리화 동결법에 따른 동결 융해 후의 염색체와 방추사의 분석)

  • ;;;;Gary B. Anderson
    • Korean Journal of Animal Reproduction
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    • v.25 no.3
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    • pp.287-292
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    • 2001
  • Selection of oocyte cryopreseivation method is a prerequisite factor for developing an effective bank system. To develop an effective vitrification method, we examined whether damages in spindle and chromosome morphology induced by vitrification. Intact cumulus-enclosed oocytes were vitrified with DPBS with 5.5 M ethylene glycol and 1.0 M sucrose, and loaded onto eletron microscopic copper grid for storing in liquid nitrogen. Intact vitrified and thawed oocytes were immunostaining for tubulin and karyotying for chromosome. Vitrfied and thawed oocytes had a higher rate of chromosome (32.8% vs. 19.6%) and spindle (32.3% vs. 20.2%) abnormalities compared with fresh oocytes. Mouse oocytes after vitrification at the mature stage showed increased incidence of chromosomal and spindle abnormalities.

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Chromosome Analysis from Papillary Carcinoma and Nodular Hyperplasia of the Thyroid Gland (결절성 갑상선종과 유두성 갑상선암의 염색체 분석)

  • Hwhang Dae-Won;Chung Ki-Yong;Kang Joong-Shin;Kim Hong-Tae;Chang Sung-Ik
    • Korean Journal of Head & Neck Oncology
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    • v.9 no.1
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    • pp.25-32
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    • 1993
  • The nodular hyperplasia of the thyroid is a common thyriod disease. Nodular hyperplasia does rarely progress to thyroid cancer. The differentiation of a nodular hyperplasia from a neoplasm may be simple or difficult, both clinically and anatomically. The papillary carcinoma of the thyroid is the most common type of thyroid malignancies. There were few studies about cytogenetic observation in thyroid cancer. But only one case of banding observation in nodular hyperplasia have been reported. In order to compare the chromosomal changes in the thyroid cancer and the noncancerous thyroid disease, we performed cytogenetic analysis in two papillary carcinoma and two nodular hyperplasia after cell culture. The chromosomal pattern of the nodular hyperplasia found was very heterogenous but no clonal abnormaly in both cases was observed. Case I : A modal chromosomal number was in 42-46 range. Chromosome 8, 19, 21. 22 were commonly lost. 9 structural anomalities among 51 analysed cells were observed but they were not clonal. Case II: A modal chromosomal number was 43. Chromosome 17 and 19 were commonly lossed. Common cytogenetic characters of this two nodular hyperplasia are hypodiploidity and very heterogenous chromosomal pattern. The result about the papillary carcinoma are as follow. In one case some numerical and structural chromosomal changes were observed. But they were not clonal abnormality. In another case the chromosomal pattern found was very heterogenous with a clonal abnormality of del(11)(q23). The modal number was 46. The del(11)(q23) a chromosomal change in papillary carcinoma of the thyroid have previously been reported(Eva Olah et al. 1989). We suggest that 11q deletion may be important role to pathogenesis of papillary carcinoma of the thyroid. According to this results, we could not find out specific differences about chromosomal changes and any relationship between the papillary carcinoma and the nodular hyperplasia.

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Chromosomal Aberrations Induced by in Vitro Irradiation of $^{131}I$ ($^{131}I$의 체외 방사선조사에 의한 염색체이상)

  • Kim, Eun-Sil;Kim, Myung-Seon;Seo, Doo-Seon;Jeong, Nae-In;Rho, Seung-Ik;Lee, Jae-Yong;Kim, Chong-Soon;Han, Seung-Soo;Kim, Hee-Geun;Kang, Duck-Won;Song, Myung-Jae
    • The Korean Journal of Nuclear Medicine
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    • v.28 no.1
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    • pp.133-140
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    • 1994
  • Recently, there are many considerations and studies on biological effects of radiations in radiation workers, as well as in accidentally or therapeutically irradiated persons. The most practical and reliable method of dosimetry for radiation accidents is the scoring of gross chromosomal aberrations in human lymphocytes (Ydr) as a biological dosimetry. By the way, although usual doses of $^{131}I$ administered therapeutically for thyroid cancer are ranging from 100 mCi to 200 mCi, there are differences of absorbed doses and Ydr, ranging from 0.004 to 0.04, on equally administered $^{131}I$ due to variations in metabolic characteristics, stage of tumors and physical status of subjects. In this study, We exert to obtain the dose-response relationships of $^{131}I$, as a good guide to evaluating acute effects of accidental irradiations and radiation induced leukemia or solid tumor, by in vitro induction of chromosomal aberrations. we studied the relationship between radiation dose (D) and the frequency of chromosomal aberrations (Ydr) obserbed in peripheral lymphocytes that were irradiated in vitro with $^{131}I$ at doses ranging from 0.05 to 6.00 Gy. By scoring cells with unstable chromosomal aberrations (dicentric chromosomes and ring chromosomes) we obtained this linear-quadratic dose response equation Ydr=0.064351 $D^2$-0.13143 D+0.045684 This dose-response relationship may be useful for evaluating acute and chronic $^{131}I$ induced biological effects.

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The Frequency of Chromosomal Aberrations of Peripheral Lymphocytes according to Radiation Dose and Dose Rate (선량 및 선량률 변화에 따른 말초혈액 임파구의 염색체 이상의 빈도)

  • Jeong Tae Sik;Baek Heum Man;Shin Byung Chul;Moon Chang Woo;Kim Mi Hyang;Lee Yong Hwan;Yum Ha Yong
    • Radiation Oncology Journal
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    • v.18 no.2
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    • pp.138-149
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    • 2000
  • Purpose : It was studied that the relationship between radiation dose, dose rate and the frequency of chromosomal aberrations in peripheral lymphocytes. Methods and Materials : Peripheral lymphocytes were irradiated in vitro with 6 MeV X-ray at dose ranges from 50 cGy to 800 cGy. The variations of the frequency of chromosomal aberrations were observed according to different radiation dose rate from 20 cGy/min to 400 cGy/min at constant total dose of 400 cGy which it was considered as factor to correct biological radiation dose measurement. Results : The yields of lymphocytes with chromosomal aberrations (dicentric chromosome, ring chromosome, acentric fragment pairs) are 0% at 50 cGy, 9% at 100 cGy, 20% at 200 cGy, 27% at 300 cGy, 55% at 400 cGy, 88% at 600 cGy, and 100% at 800 cGy. The value of Ydr is 0.000 at 50 cGy, 0.093 at 100 cGy, 0.200 at 200 cGy, 0.354 at 300 cGy, 0.612 at 400 cGy, 2.040 at 600 cGy, and 2.846 at 800 cGy. The relationship between radiation (D) and the frequency of dicentrlc chromosomes and ring Chromosomes (Ydr) can be expressed as Ydr=0.188${\times}$10$^{-2}$ D/Gy+0.422${\times}$10$^{-4}$/Gy$^{2}$${\times}$D$^{2}$ The Value of Qdr is 0.000 at 50 cGy, 1.000 at 100 cGy, 1.000 at 200 cGy, 1.333 at 300 cGy, 1.118 at 400 cGy, 2.318 at 600 cGy, and 2.846 at 800 cGy. When 400 cGy is irradiated with different dose rate each of 20, 40, 60, 80, 100, 160, 240, 320, and 400 cGy/min, Ydr is each of 0.982, 0.837, 0.860, 0.732, 0.763, 0.966, 0.909, 1.006, and 0.806, and Qdr is each of 1.839, 1.555, 1.654, 1.333, 1.381, 1.750, 1.6000, 1.710, and 1.318. Conclusion : There are not the significant variations of Ydr and Qdr values according to different dose rate. And so radiation damage is influenced by total exposed radiation doses and is influenced least of all by different dose rate when it is acute single exposure.

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Development of a Noble Dosimetry Using Metaphase Analysis and Micronuclei Assay of Bone Marrow Cells in Mice (마우스 골수세포의 중기염색체 분석 및 미소핵 검사를 이용한 피폭선량 평가법의 개발)

  • Min, Jung-Jun;Bom, Hee-Seung;Kim, Young-Ho;Yoon, Hyun-Joong;Kim, Ji-Yeul
    • The Korean Journal of Nuclear Medicine
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    • v.34 no.1
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    • pp.74-81
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    • 2000
  • Purpose: The purpose of this study was to develop in vivo dosimetries using both chromosomal aberrations and micronuclei in mice to assess biological effects of radiations. Materials and Methods: Five each mice were irradiated with 0, 1, 2, 3, 4, 5, 10 Gy of Cs-137 gamma-rays. We scored numbers of chromosomal aberrations in metaphase spreads and numbers of micronuclei in bone marrow smears under light microscope, and obtained the dose-response relationships. We also examined the relationship between the two dose-response curves. Results: The frequency of both chromosomal aberrations and micronuclei increased with dose, in a linear-quadratic manner The delta, beta, and alpha coefficients were 0.0176, 0.0324, and 0.0567 for metaphase analysis (r=1.0, p<0.001) and 0.0019, 0.0073, and 0.0506 for micronuclei assay (r=1.0, p<0.001). The frequency of chromosomal aberrations and micronuclei in different radiation doses was significantly correlated (r=0.99, p<0.01). Conclusion: In vivo dosimetry using either metaphase analysis or micronucleus assay was feasible in mice. These methods could be useful to evaluate biological effects of radiation.

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Effects of Several Heavy Metals on the Frequencies of Sister Chromatid Exchanges and Chromosomal Aberrations in Human Lymphocytes (일부 중금속이 인혈배양 임파구의 염색체이상 및 자매염색분체교환에 미치는 영향)

  • Jung, Chae-Deuk;Lee, Jeong-Sang;Koh, Dai-Ha;Ki, No-Suk;Hwang, In-Dam
    • Journal of Preventive Medicine and Public Health
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    • v.22 no.1 s.25
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    • pp.116-124
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    • 1989
  • To assay the cytogenetic toxicity of $NiCl_2,\;K_2Cr_2O_7CdCl_2,\;and\;HgCl_2$, the frequencies of sister chromatid exchanges(SCEs) and chromosomal aberrations were observed in the metaphase chromosomes of the human lymphocytes which were cultured with above materials. The frequencies of SCEs are dose-dependently increased by all materials in this experiment. Chromosomal aberrations, especially gap and break, are increased by the nickel and chromic compounds, while not significantly increased by the cadmium and mercurial compounds. This results indicate the dose dependent relationship between the frequencies of SCEs and the concentrations of the heavy metals, but the increasing rates of the SCEs induced by the heavy metals are less sensitive than other mutagens or carcinogens which were confirmed.

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Effects of Ara-C on UV and MMS-induced Excision Repair, Chromosome Aberrations, Sister Chromatid Exchanges and Replication Inhibition (자외선과 MMS에 의한 절제회복, 염색체이상, 자매염색분체 교환 및 복제억제 현상에 미치는 Ara-C의 영향)

  • Park, Kyung-Hee;Park, Sang-Dai
    • The Korean Journal of Zoology
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    • v.23 no.4
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    • pp.203-218
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    • 1980
  • Unscheduled DNA synthesis, chromosome aberrations, sister chromatid exchanges and DNA replication inhibition induced by the combined treatments with ara-C and UV-light or MMS in $HF_1$, CHO and $HelaS_3$ cells were studied, and the results obtained were as follows: (1) Ara-C was found to inhibit UV-or MMS-induced unscheduled DNA synthesis and the inhibitory effect of ara-C was more remarkable in its post-treatment. (2) Ara-C enhanced the rate of chromosome aberrations induced by MMS or UV-light. Post-treatment with ara-C exhibited the synergistic effect on MMS-induced chromosome aberrations mainly by increases of chromatid deletions. (3) Contrarily, ara-C did not increase the rate of sister chromatid exchanges, particularly in the pre-treatment with MMS, although it was found to induce sister chromatid exchanges. (4) The rate of DNA synthesis was declined immediately after are-C treatment and then recovered. The combined treatments with ara-C and UV-light or MMS showed that the initial response on replication inhibition was similar to that of ara-C, but later responses were similar to that of UV-light or MMS treated group.

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The Recurrent Pregnancy Loss Associated with a Female Carrier of a Structural Chromosome Rearrangement (염색체 구조적 이상을 가진 산모의 재조합에 의한 태아의 비정상 핵형분석결과의 증례보고)

  • Lee, Soo-Min;Go, Sang-Hee;Jo, Soo-Kyung;Park, So-Hyun;Moon, Soo-Jin;Lee, Dong-Suk;Kim, Ki-Chul;Hwang, Do-Yeong
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.156-159
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    • 2010
  • Inversion, one of the balanced rearrangements, usually does not lead to phenotypic abnormalities; all genetic information exists in the proper amount, merely in a different order or in an abnormal location. However, offspring of an inversion carrier is at risk of chromosomal imbalance because an inversion loop can be formed during crossing-over of the paternal and the maternal chromosomes in meiosis. We report a 38-year-old woman with inversion and balanced translocation and her fetus with unusual rearrangement causing chromosomal imbalance. We performed conventional cytogenetic analysis, MLPA, and subtelomeric FISH in the cells of the embryo. The results showed that the distal portion of chromosome 13q was added to the terminal portion of chromosome 9p during crossing-over. Therefore, the final karyotype of the fetus was 46,XY,rec(9)t(9;13)(p22;q32)inv(9)(p12q13)mat, confirmed using molecular-cytogenetic analyzing tools.